HGVS | Genome Assembly |
---|---|
NC_000023.11:g.78113794A>T , CM000685.2:g.78113794A>T | GRCh38 |
NC_000023.10:g.77369291A>T , CM000685.1:g.77369291A>T | GRCh37 |
NC_000023.9:g.77255947A>T | NCBI36 |
NG_008862.1:g.14626A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000373316.5:c.167A>T MANE Select | ENSP00000362413.4:p.Lys56Met | |
ENST00000644362.1:c.83A>T | ENSP00000496140.1:p.Lys28Met | |
ENST00000373316.4:c.167A>T | ENSP00000362413.4:p.Lys56Met | |
ENST00000477335.5:n.303A>T | ||
ENST00000491291.1:n.159A>T | ||
NM_000291.3:c.167A>T | NP_000282.1:p.Lys56Met | |
NM_000291.4:c.167A>T MANE Select | NP_000282.1:p.Lys56Met |